Resumo

GRANDEZ-URBINA, J. Antonio et al. Early-onset Pompe´s disease: A case report. Rev Med Hered [online]. 2013, vol.24, n.4, pp.311-313. ISSN 1729-214X.

Pompe´s disease is a rare entity of early age presentation that is caused by a deficiency in the synthesis of α glucosidase 1-4. It has never been reported in the local literature. We present a case of insidious onset with respiratory distress and decompensated cardiomyopathy.

Palavras-chave : Dilated cardiomyopathy; genetics; pediatrics.

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